Canonical Allele Identifier: CA7828711

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090492G>A , CM000678.2:g.2090492G>A	GRCh38
NC_000016.9:g.2140493G>A , CM000678.1:g.2140493G>A	GRCh37
NC_000016.8:g.2080494G>A	NCBI36
NG_005895.1:g.46187G>A , LRG_487:g.46187G>A
NG_008617.1:g.52729C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12237C>T MANE Select	ENSP00000262304.4:p.Ser4079=
ENST00000262304.8:c.12237C>T	ENSP00000262304.4:p.Ser4079=
ENST00000423118.5:c.12234C>T	ENSP00000399501.1:p.Ser4078=
ENST00000472577.1:n.265C>T
NM_000296.3:c.12234C>T	NP_000287.3:p.Ser4078=
NM_001009944.2:c.12237C>T	NP_001009944.2:p.Ser4079=
XM_005255370.2:c.9192C>T	XP_005255427.1:p.Ser3064=
XM_011522525.1:c.12315C>T	XP_011520827.1:p.Ser4105=
XM_011522526.1:c.12312C>T	XP_011520828.1:p.Ser4104=
XM_011522527.1:c.12297C>T	XP_011520829.1:p.Ser4099=
XM_011522528.1:c.12291C>T	XP_011520830.1:p.Ser4097=
XM_011522529.1:c.12288C>T	XP_011520831.1:p.Ser4096=
XM_011522530.1:c.12261C>T	XP_011520832.1:p.Ser4087=
XM_011522531.1:c.12243C>T	XP_011520833.1:p.Ser4081=
XM_011522532.1:c.12189C>T	XP_011520834.1:p.Ser4063=
XM_011522533.1:c.12108C>T	XP_011520835.1:p.Ser4036=
XM_011522534.1:c.12051C>T	XP_011520836.1:p.Ser4017=
XM_011522535.1:c.10137C>T	XP_011520837.1:p.Ser3379=
XM_011522537.1:c.9315C>T	XP_011520839.1:p.Ser3105=
XR_932867.1:n.12155C>T
XM_005255370.3:c.9192C>T	XP_005255427.1:p.Ser3064=
XM_011522528.3:c.12291C>T	XP_011520830.1:p.Ser4097=
XM_011522529.2:c.12288C>T	XP_011520831.1:p.Ser4096=
XM_011522537.2:c.9315C>T	XP_011520839.1:p.Ser3105=
XM_024450298.1:c.12357C>T	XP_024306066.1:p.Ser4119=
XM_024450299.1:c.12285C>T	XP_024306067.1:p.Ser4095=
XM_024450300.1:c.12147C>T	XP_024306068.1:p.Ser4049=
XM_024450301.1:c.10233C>T	XP_024306069.1:p.Ser3411=
NM_000296.4:c.12234C>T	NP_000287.4:p.Ser4078=
NM_001009944.3:c.12237C>T MANE Select	NP_001009944.3:p.Ser4079=